Preferred Name |
Ellis-Van Creveld syndrome |
|
Synonyms |
Chondroectodermal dysplasia |
|
Definitions |
OMIM mapping confirmed by DO. [SN]. A syndrome characterized by short limbs, short ribs, postaxial polydactyly, dysplastic nails and teeth, and in many patients congenital cardiac defects that has_material_basis_in homozygous or compound heterozygous mutation in either EVC or EVC2 on chromosome 4p16.2. |
|
ID |
http://purl.obolibrary.org/obo/DOID_12714 |
|
comment |
OMIM mapping confirmed by DO. [SN]. |
|
database_cross_reference |
ICD10CM:Q77.6 SNOMEDCT_US_2020_03_01:62501005 UMLS_CUI:C0013903 OMIM:225500 MESH:D004613 ICD9CM:756.55 GARD:1301 NCI:C84684 |
|
has exact synonym |
Chondroectodermal dysplasia Ellis-van Creveld syndrome mesoectodermal dysplasia |
|
has_obo_namespace |
disease_ontology |
|
id |
DOID:12714 |
|
imported from | ||
in_subset | ||
label |
Ellis-Van Creveld syndrome |
|
notation |
DOID:12714 |
|
prefLabel |
Ellis-Van Creveld syndrome |
|
textual definition |
A syndrome characterized by short limbs, short ribs, postaxial polydactyly, dysplastic nails and teeth, and in many patients congenital cardiac defects that has_material_basis_in homozygous or compound heterozygous mutation in either EVC or EVC2 on chromosome 4p16.2. |
|
subClassOf |
The BioAssay Ontology integrates with OntoloBridge, allowing community users to suggest additions to the public ontology. Complete the template below to submit a term request directly to the ontology maintainer.
Term Label (required)
Suggested term name. If a term can be described with multiple synonyms, only list the preferred name here.
Example: tissue-based format
Term description (required)
A brief definition, description, or usage of your suggested term. Additional term synonyms may be listed in this section.
Example: Involves the use of a tissue derived from a living organism and is a heterogeneous assay type.
Superclass (required)
The parent term of the suggested term. The parent term should be an existing entry of the current ontology. The superclass can be selected directly from the 'Classes' viewer on Bioportal's left tree navigation.
Example: assay format
References (optional)
Provide evidence for the existence of the requested term such as PMIDs of papers or links to other resources that describe the term.
Justification (optional)
Provide any additional information about the requested term here.